keratosis follicularis spinulosa decalvans
Findings
No curated finding names keratosis follicularis spinulosa decalvans yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.
Definition from the Mondo Disease Ontology (MONDO:0000136), read 2026-09-29. CC BY 4.0.
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Facial erythemaHPOHP:0001041
- Frequent (30% to 79% of cases)
- Follicular hyperkeratosisHPOHP:0007502
- Frequent (30% to 79% of cases)
- FolliculitisHPOHP:0025084
- Frequent (30% to 79% of cases)
- Hyperkeratotic papuleHPOHP:0045059
- Frequent (30% to 79% of cases)
- Keratosis pilarisHPOHP:0032152
- Frequent (30% to 79% of cases)
- Progressive alopeciaHPOHP:0002287
- Frequent (30% to 79% of cases)
- PruritusHPO
Show the remaining 5
- ConjunctivitisHPOHP:0000509
- Occasional (5% to 29% of cases)
- Corneal dystrophyHPOHP:0001131
- Occasional (5% to 29% of cases)
- Nail dystrophyHPOHP:0008404
- Occasional (5% to 29% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Occasional (5% to 29% of cases)
- PhotophobiaHPOHP:0000613
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
1 name
Resolves to: keratosis follicularis spinulosa decalvans
- Also called
- keratosis pilaris decalvans